- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:606895)
- Pulp calcification (HP:0003771): Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. Evidence: TAS. (OMIM:606895)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: IEA. (OMIM:606895)
- Absent trapezium (HP:0004253). Evidence: IEA. (OMIM:606895)
- Absent scaphoid (HP:0011835): Congenital absence of the scaphoid.. Evidence: TAS. (OMIM:606895)
- Cone-shaped epiphyses of the middle phalanges of the hand (HP:0010259). Evidence: IEA. (OMIM:606895)
- Distal toe symphalangism (HP:0001859): Bony fusion at the distal interphalangeal joint of the second, third, fourth, or fifth toe. Evidence: IEA. (OMIM:606895)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. (OMIM:606895)
- Short middle phalanx of finger (HP:0005819): Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. Evidence: TAS. (OMIM:606895)
- Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843). Evidence: IEA. (OMIM:606895)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:606895)
- Absent trapezoid bone (HP:0006106). Evidence: IEA. (OMIM:606895)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:606895)
- Distal finger symphalangism (HP:0001204): The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. Evidence: IEA. (OMIM:606895)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: IEA. (OMIM:606895)
These phenotypes are associated with the disease symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch (OMIM:606895).